{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA339228869",
  "communityStandardTitle": [
    "NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3184537[alleleid]",
        "alleleId": 3184537,
        "preferredName": "NM_001371928.1(AHDC1):c.2968C>T (p.Gln990Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3024280",
        "RCV": [
          "RCV003883326"
        ],
        "variationId": 3024280
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27875659G>A?assembly=hg19",
        "id": "chr1:g.27875659G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.27549148G>A?assembly=hg38",
        "id": "chr1:g.27549148G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2521902609",
        "rs": 2521902609
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27549148,
          "referenceAllele": "G",
          "start": 27549147
        }
      ],
      "hgvs": [
        "NC_000001.11:g.27549148G>A",
        "CM000663.2:g.27549148G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27875659,
          "referenceAllele": "G",
          "start": 27875658
        }
      ],
      "hgvs": [
        "NC_000001.10:g.27875659G>A",
        "CM000663.1:g.27875659G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 27748246,
          "referenceAllele": "G",
          "start": 27748245
        }
      ],
      "hgvs": [
        "NC_000001.9:g.27748246G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 59347,
          "referenceAllele": "C",
          "start": 59346
        }
      ],
      "hgvs": [
        "NG_034158.1:g.59347C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005786"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3566,
          "referenceAllele": "C",
          "start": 3565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.10:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3869,
          "referenceAllele": "C",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642245.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495072.1:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000495072.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3591,
          "referenceAllele": "C",
          "start": 3590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000642416.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494394.1:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000494394.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3572,
          "referenceAllele": "C",
          "start": 3571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000644989.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495665.1:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000495665.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768110"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3869,
          "referenceAllele": "C",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000673934.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501218.1:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000501218.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln990Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln990Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3565,
          "referenceAllele": "C",
          "start": 3564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000247087.9:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000247087.4:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000247087.4:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3937,
          "referenceAllele": "C",
          "start": 3936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "ENST00000374011.6:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363123.2:p.Gln990Ter",
        "hgvsWellDefined": "ENSP00000363123.2:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270020"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825344117",
      "coordinates": [
        {
          "allele": "T",
          "end": 3799,
          "referenceAllele": "C",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001029882.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001025053.1:p.Gln990Ter",
        "hgvsWellDefined": "NP_001025053.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3924,
          "referenceAllele": "C",
          "start": 3923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4029,
          "referenceAllele": "C",
          "start": 4028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4049,
          "referenceAllele": "C",
          "start": 4048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3921,
          "referenceAllele": "C",
          "start": 3920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3698,
          "referenceAllele": "C",
          "start": 3697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3713,
          "referenceAllele": "C",
          "start": 3712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541255.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539557.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_011539557.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4043,
          "referenceAllele": "C",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3621,
          "referenceAllele": "C",
          "start": 3620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3925,
          "referenceAllele": "C",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.1:n.3925C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4034,
          "referenceAllele": "C",
          "start": 4033
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245848.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245905.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245905.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532515"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4139,
          "referenceAllele": "C",
          "start": 4138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245849.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245906.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245906.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4159,
          "referenceAllele": "C",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245850.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245907.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245907.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4031,
          "referenceAllele": "C",
          "start": 4030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245851.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245908.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245908.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3808,
          "referenceAllele": "C",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_005245852.3:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005245909.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_005245909.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4153,
          "referenceAllele": "C",
          "start": 4152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541256.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539558.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_011539558.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4908,
          "referenceAllele": "C",
          "start": 4907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_011541257.2:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539559.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_011539559.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554366"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4116,
          "referenceAllele": "C",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XM_024446461.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302229.1:p.Gln990Ter",
        "hgvsWellDefined": "XP_024302229.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4035,
          "referenceAllele": "C",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "XR_946609.2:n.4035C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614392"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741869553",
      "coordinates": [
        {
          "allele": "T",
          "end": 3869,
          "referenceAllele": "C",
          "start": 3868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025230",
      "geneNCBI_id": 27245,
      "geneSymbol": "AHDC1",
      "hgvs": [
        "NM_001371928.1:c.2968C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358857.1:p.Gln990Ter",
        "hgvsWellDefined": "NP_001358857.1:p.Gln990_Leu1603delinsAspCysAlaAsnSerLysAspCysSerPheAlaTyrGlySerGlyAsnSerLeuProAlaSerProSerSerAlaHisSerAlaGlyTyrAlaProProProThrGlyGlyProCysLeuProProSerLysAlaSerPhePheSerSerSerGluGlyAlaProPheSerGlySerAlaProThrProLeuArgCysAspSerArgAlaSerThrValSerProGlyGlyTyrMetValProLysGlyThrThrAlaSerAlaThrSerAlaAlaSerAlaAlaSerSerSerSerSerSerPheGlnProSerProGluAsnCysArgGlnPheAlaGlyAlaSerGlnTrpProPheArgGlnGlyTyrGlyGlyLeuAspTrpAlaSerGluAlaPheSerGlnLeuTyrAsnProSerPheAspCysHisValSerGluProAsnValIleLeuAspIleSerAsnTyrThrProGlnLysValLysGlnGlnThrAlaValSerGluThrPheSerGluSerSerSerAspSerThrGlnPheAsnGlnProValGlyGlyGlyGlyPheArgArgAlaAsnSerGluAlaSerSerSerGluGlyGlnSerSerLeuSerSerLeuGluLysLeuMetMetAspTrpAsnGluAlaSerSerAlaProGlyTyrAsnTrpAsnGlnSerValLeuPheGlnSerSerSerLysProGlyArgGlyArgArgLysLysValAspLeuPheGluAlaSerHisLeuGlyPheProThrSerAlaSerAlaAlaAlaSerGlyTyrProSerLysArgSerThrGlyProArgGlnProArgGlyGlyArgGlyGlyGlyAlaCysSerAlaLysLysGluArgGlyGlyAlaAlaAlaLysAlaLysPheIleProLysProGlnProValAsnProLeuPheGlnAspSerProAspLeuGlyLeuAspTyrTyrSerGlyAspSerSerMetSerProLeuProSerGlnSerArgAlaPheGlyValGlyGluArgAspProCysAspPheIleGlyProTyrSerMetAsnProSerThrProSerAspGlyThrPheGlyGlnGlyPheHisCysAspSerProSerLeuGlyAlaProGluLeuAspGlyLysHisPheProProLeuAlaHisProProThrValPheAspAlaGlyLeuGlnLysAlaTyrSerProThrCysSerProThrLeuGlyPheLysGluGluLeuArgProProProThrLysLeuAlaAlaCysGluProLeuLysHisGlyLeuGlnGlyAlaSerLeuGlyHisAlaAlaAlaAlaGlnAlaHisLeuSerCysArgAspLeuProLeuGlyGlnProHisTyrAspSerProSerCysLysGlyThrAlaTyrTrpTyrProProGlySerAlaAlaArgSerProProTyrGluGlyLysValGlyThrGlyLeuLeuAlaAspPheLeuGlyArgThrGluAlaAlaCysLeuSerAlaProHisLeuAlaSerProProAlaThrProLysAlaAspLysGluProLeuGluMetAlaArgProProGlyProProArgGlyProAlaAlaAlaAlaAlaGlyTyrGlyCysProLeuLeuSerAspLeuThrLeuSerProValProArgAspSerLeuLeuProLeuGlnAspThrAlaTyrArgTyrProGlyPheMetProGlnAlaHisProGlyLeuGlyGlyGlyProLysSerGlyPheLeuGlyProMetAlaGluProHisProGluAspThrPheThrValThrSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693074",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000673934.1:c.2968C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001371928.1:c.2968C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501218.1:p.Gln990Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358857.1:p.Gln990Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}